Submissions for variant NM_012203.2(GRHPR):c.579A>G (p.Ala193=)

gnomAD frequency: 0.85807  dbSNP: rs309458

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250020	SCV000311878	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020679	SCV000480137	benign	Primary hyperoxaluria, type II	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000250020	SCV000711756	benign	not specified	2016-02-02	criteria provided, single submitter	clinical testing	This is a RefSeq error. The reference base (c.579A) is the minor allele. This al lele (A) has been identified in 25.9% (2685/10378) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs309 458) and thus meets criteria to be classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522556	SCV001732128	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020679	SCV001762617	benign	Primary hyperoxaluria, type II	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001522556	SCV001827283	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001522556	SCV005265671	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020679	SCV000041224	not provided	Primary hyperoxaluria, type II		no assertion provided	literature only
Clinical Biochemistry Laboratory, Health Services Laboratory	RCV000020679	SCV000239781	uncertain significance	Primary hyperoxaluria, type II	2014-11-27	no assertion criteria provided	in vitro
Natera, Inc.	RCV000020679	SCV001462564	benign	Primary hyperoxaluria, type II	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000250020	SCV001741701	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250020	SCV001958827	benign	not specified		no assertion criteria provided	clinical testing